Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

Ubiquilin immunoreactivity in cytoplasmic and nuclear inclusions in synucleinopathies, polyglutamine diseases and intranuclear inclusion body disease

(2012) Fumiaki Mori et al.   ACTA NEUROPATHOLOGICA

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

FUS-related proteinopathies: Lessons from animal models

(2012) Nicholas A. Lanson et al.   BRAIN RESEARCH

RNA-binding proteins in neurological disease

(2012) Fen-Biao Gao et al.   BRAIN RESEARCH

TDP-43 aggregation in neurodegeneration: Are stress granules the key?

(2012) Colleen M. Dewey et al.   BRAIN RESEARCH

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation

(2012) Casey Cook et al.   HUMAN MOLECULAR GENETICS

Does a loss of TDP-43 function cause neurodegeneration?

(2012) Zuo-Shang Xu   Molecular Neurodegeneration

Mutant TDP-43 and FUS Cause Age-Dependent Paralysis and Neurodegeneration in C. elegans

(2012) Alexandra Vaccaro et al.   PLoS One

Knockdown of the Drosophila Fused in Sarcoma (FUS) Homologue Causes Deficient Locomotive Behavior and Shortening of Motoneuron Terminal Branches

(2012) Hiroshi Sasayama et al.   PLoS One

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

(2011) Julie S. Snowden et al.   ACTA NEUROPATHOLOGICA

Transportin1: a marker of FTLD-FUS

(2011) Jack Brelstaff et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

(2011) Karli K. McDonald et al.   HUMAN MOLECULAR GENETICS

The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span

(2011) Ji-Wu Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

Progranulin and TDP-43: Mechanistic Links and Future Directions

(2011) Samir Kumar-Singh   JOURNAL OF MOLECULAR NEUROSCIENCE

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity

(2011) Weirui Guo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Many Faces of Tau

(2011) Meaghan Morris et al.   NEURON

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

The C-Terminal TDP-43 Fragments Have a High Aggregation Propensity and Harm Neurons by a Dominant-Negative Mechanism

(2011) Chunxing Yang et al.   PLoS One

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Expression of human FUS protein in Drosophila leads to progressive neurodegeneration

(2011) Yanbo Chen et al.   Protein & Cell

Distinct pathological subtypes of FTLD-FUS

(2010) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Pathological correlates of frontotemporal lobar degeneration in the elderly

(2010) Atik Baborie et al.   ACTA NEUROPATHOLOGICA

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS

(2010) Daisuke Ito et al.   ANNALS OF NEUROLOGY

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Tau deficiency leads to the upregulation of BAF-57, a protein involved in neuron-specific gene repression

(2010) Elena Gómez de Barreda et al.   FEBS LETTERS

Interaction with Polyglutamine Aggregates Reveals a Q/N-rich Domain in TDP-43

(2010) Rodrigo A. Fuentealba et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Prion-like disorders: blurring the divide between transmissibility and infectivity

(2010) M. Cushman et al.   JOURNAL OF CELL SCIENCE

Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U

(2010) Kuen-Jer Tsai et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology

(2010) Iga Wegorzewska et al.   Neurodegenerative Diseases

FUS: A new actor on the frontotemporal lobar degeneration stage

(2010) N. J. Cairns et al.   NEUROLOGY

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

A Drosophila model for TDP-43 proteinopathy

(2010) Y. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene

(2009) Ida Elisabeth Holm et al.   ACTA NEUROPATHOLOGICA

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis

(2009) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Neuropathological heterogeneity in frontotemporal lobar degeneration with TDP-43 proteinopathy: a quantitative study of 94 cases using principal components analysis

(2009) Richard A. Armstrong et al.   JOURNAL OF NEURAL TRANSMISSION

Tau - an inhibitor of deacetylase HDAC6 function

(2009) Mar Perez et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

(2009) Harro Seelaar et al.   JOURNAL OF NEUROLOGY

Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration

(2009) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

The TET Family of Proteins: Functions and Roles in Disease

(2009) A. Y. Tan et al.   Journal of Molecular Cell Biology

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

(2008) Mattias K Andersson et al.   BMC CELL BIOLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics